Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBone Diseases, Metabolic (D001851)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandLacrimal Duct Obstruction (D007767)
..Starting node
..expandChitty Hall Baraitser syndrome (C535928)

       Child Nodes:



 Sister Nodes: 
..expandChitty Hall Baraitser syndrome (C535928)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandPropping Zerres syndrome (C538052)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2081
Name:Chitty Hall Baraitser syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D001851|MESH:D006130|MESH:D006319|MESH:D007767
TreeNumbers:C05.116.198/C535928 |C09.218.458.341.887/C535928 |C10.597.751.418.341.887/C535928 |C11.496.456/C535928 |C23.550.393/C535928 |C23.888.592.763.393.341.887/C535928
Synonyms:Deafness, femoral epiphyseal dysplasia, short stature and developmental delay |Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
Slim Mappings:Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C535928
MeSH: C535928
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants